Updated clinical overview on cardiac laminopathies: an electrical and mechanical disease

Figures

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  Figure 1.. Pathophysiological overview of human laminopathies. The figure shows the complexity of pathophysiological mechanisms that, from mutations in the LMNA gene, finally lead to a broad spectrum of possible clinical phenotypes, including but not limited to heart disease. In particular, genotype-to-phenotype transition is divided into three levels represented by concentric lines: the internal one (molecular level) represents molecular pathways more commonly involved in LMNA gene mutations; the intermediate one (cellular level) summarizes the subsequent alterations of cell functions; the external one (phenotypic level) shows the main clinical syndromes associated to LMNA gene mutations, with a wide spectrum of possible overlapping phenotypes.

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  Figure 2.. Mechanical and electrical disease management in cardiac laminopathies. The figure shows the best clinical management for patients presenting with mechanical (green panel, on the left) or electrical disease (blue panel, on the right), according to the main studies published so far. Abbreviations: AF/Flu = atrial fibrillation/flutter; AVB = atrioventricular block; BB = betablockers; CCB = calcium-channel blockers; CRT = cardiac resynchronization therapy with (CRT-D) or without (CRT-P) defibrillator function; DCM = dilated cardiomyopathy; HF = heart failure; HTx = heart transplantation; ICD = implantable cardioverter defibrillator; LBBB = left bundle branch block; LV = left ventricle; LVEF = left ventricular ejection fraction; NMM = non-missense mutation; NSVT = non-sustained ventricular tachycardia; OAC = oral anticoagulants; OMT = optimal medical therapy; PM = pacemaker; RyC/RaC = rhythm/rate control; SSS = sick sinus syndrome; VT/VF = ventricular tachycardia/fibrillation.